Table 6:

X-Linked Proliferative Disease: Targeted Therapy

Targeted TreatmentXLP1XLP2
Allogeneic hematopoietic stem cell transplant (HSCT) 1
  • Should be strongly considered in all males as early in life as is feasible, particularly in those who have not yet developed symptoms. 2, 3
  • In those who have developed HLH, HSCT should be pursued as soon as the person is clinically stable & HLH has been adequately controlled (i.e., remission).
  • HSCT is not recommended for asymptomatic heterozygous females.
  • Those w/XLP2 appear to experience more complications following allogeneic HSCT, incl ↑ rates of acute & chronic graft-vs-host disease. 4
  • High mortality has been observed when using myeloablative conditioning regimens in persons w/XLP2. 5
  • Those w/XLP2 who develop HLH have better outcomes if their HLH is in remission prior to HSCT. 6
  • There are reports of improvement of enterocolitis following HSCT. 7

HLH = hemophagocytic lymphohistiocytosis

1.

Successful outcomes have been reported with the use of matched-sib donors and marrow or umbilical cord blood from unrelated donors [Marsh et al 2014]. Limited data are available regarding the use of haploidentical donors.

2.

Overall survival is approximately 70%-80% [Marsh et al 2014], with improved outcomes following reduced-intensity conditioning.

3.

Survival of affected individuals who received a transplant may be increased if they were transplanted prior to developing HLH or other symptoms of disease [Booth et al 2011, Tamura et al 2018, Tomomasa et al 2022]; however, one report reveals similar overall survival for affected individuals with or without a history of HLH [Marsh et al 2014].

4.
5.

Early evidence suggests that reduced-intensity conditioning regimens are effective and should be considered due to very poor early experience with myeloablative preparative regimens [Marsh et al 2013]. Survival (57%-90%) has been better using reduced-intensity or reduced-toxicity regimens.

6.
7.

From: X-Linked Lymphoproliferative Disease

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